Details of Disease | DrugMAP

General Information of Disease (ID: DIS7SKAQ)

Disease Name	Stargardt disease 3
Synonyms	STGD3; Stargardt-like macular dystrophy, autosomal dominant; macular dystrophy with flecks, type 3; Stargardt disease type 3; Stargardt disease 3
Disease Hierarchy	DISPXOTO: Stargardt disease DISNJRVK: ELOVL4-related maculopathy DIS7SKAQ: Stargardt disease 3
Disease Identifiers	MONDO ID MONDO_0010819 MESH ID C535805 UMLS CUI C1838644 OMIM ID 600110 MedGen ID 333146

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCA4	TTLB52K	Strong	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IMPG1	OT12HBL0	Strong	Genetic Variation	[2]
ELOVL4	OT2M9W26	Definitive	Autosomal dominant	[3]
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References

1	Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.Hum Mol Genet. 2018 Jan 15;27(2):295-306. doi: 10.1093/hmg/ddx400.
2	Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).J Med Genet. 1998 Aug;35(8):641-5. doi: 10.1136/jmg.35.8.641.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.